Page 158 - Read Online
P. 158

Page 466                                             Kleefstra. J Transl Genet Genom 2020;4:464-6  I  http://dx.doi.org/10.20517/jtgg.2020.53

               4.   Srivastava S, Love-Nichols JA, Dies KA, et al. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier
                   clinical diagnostic test for individuals with neurodevelopmental disorders. Genet Med 2019;21:2413-21.
               5.   Lelieveld SH, Reijnders MRF, Pfundt R, et al. Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.
                   Nat Neurosci 2016;19:1194-6.
               6.   Marti M, Millan MIP, Young JI, Walz K. Intellectual disability, the long way from genes to biological mechanisms. J Transl Genet Genom
                   2020;4:104-13.
               7.   Khajuria R, Gupta N, van Roozendaal KEP, et al. Spectrum of MECP2 mutations in Indian females with Rett Syndrome - a large cohort
                   study. J Transl Genet Genom 2020;4:91-103.
               8.   Fichera M, Saccuzzo L, Bertuzzo S, et al. Assigning single clinical features to their disease-locus in large deletions: the example of
                   chromosome 1q23-25 deletion syndrome. J Transl Genet Genom 2020;4:114-32.
               9.   Gropman AL, Anderson A. Novel imaging technologies for genetic diagnoses in the inborn errors of metabolism. J Transl Genet Genom
                   2020;4.
               10.  Pascolini G. DeepGestalt analysis of the SETD5-associated intellectual disability syndrome. J Transl Genet Genom 2020;4:17-21.
               11.  Goodman SJ, Cytrynbaum C, Chung BHY, et al. EHMT1 pathogenic variants and 9q34.3 microdeletions share altered DNA methylation
                   patterns in patients with Kleefstra syndrome. J Transl Genet Genom 2020;4:144-58.
               12.  Franz M, Hagenau L, Jensen LR, Kuss AW. Role of transfer RNA modification and aminoacylation in the etiology of congenital
                   intellectual disability. J Transl Genet Genom 2020;4:50-70.
               13.  Yasin H, Zahir FR. Chromodomain helicase DNA-binding proteins and neurodevelopmental disorders. J Transl Genet Genom
                   2020;4:[Online First].
               14.  Mohammadi NA, Freude K, Haukedal H, et al. Human induced pluripotent cells in personalized treatment of monogenic epilepsies. J
                   Transl Genet Genom 2020;4:238-50.
               15.  Dana H, Tahtasakal R, Sener E F. Animal models of autism: a perspective from autophagy mechanisms. J Transl Genet Genom
                   2020;4:251-62.
               16.  Cendrós M, Arranz MJ, Torra M, et al. The influence of CYP enzymes and ABCB1 on treatment outcomes in schizophrenia: association
                   of CYP1A2 activity with adverse effects. J Transl Genet Genom 2020;4:210-20.
   153   154   155   156   157   158   159   160   161   162   163